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Pkp1 Gene Detail
Summary
  • Symbol
    Pkp1
  • Name
    plakophilin 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1328359
    NCBI Gene: 18772
  • Gene Overview
    MyGene.info: PKP1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr1:135871395-135919207 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      47813 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 59.35 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    PKP1, plakophilin 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    PKP1, plakophilin 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    B6P
  • Links
    NCBI Gene ID: 5317
    neXtProt AC: NX_Q13835
    UniProt: Q13835

  • Chr Location
    1q32.1; chr1:201283452-201332993 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 253
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;2 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: PKP1
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    18 phenotypes from 1 allele in 1 genetic background
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit reduced birth weight, absent whiskers, and neonatal lethality associated with skin fragility, skin lesions, loss of desmosomal adhesion, and impaired skin barrier function due to abnormal tight junction formation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000022498 VEGA Gene Model | MGI Sequence Detail 47813 C57BL/6J ±  kb
    transcript OTTMUST00000053857 VEGA | MGI Sequence Detail 4669 Not Applicable  
    polypeptide OTTMUSP00000025630 VEGA | MGI Sequence Detail 728 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      480 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 51
      cDNA 51

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2138285
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 7
      Gene Ontology 6
      Phenotypes 9
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:244304 Richardson R, et al., p63 exerts spatio-temporal control of palatal epithelial cell fate to prevent cleft palate. PLoS Genet. 2017 Jun;13(6):e1006828

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory